Huang-Doran I - Search Results

1

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM. Mericq V, et al. Among authors: huang doran i. Eur J Endocrinol. 2022 Mar 23;186(5):543-552. doi: 10.1530/EJE-21-0609. Eur J Endocrinol. 2022. PMID: 35234134 Free PMC article.

2

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action.

Huang-Doran I, Semple RK. Huang-Doran I, et al. Int J Obes (Lond). 2010 Oct;34(10):1554-8. doi: 10.1038/ijo.2010.92. Epub 2010 Jun 1. Int J Obes (Lond). 2010. PMID: 20514046

3

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.

Rashid ST, Corbineau S, Hannan N, Marciniak SJ, Miranda E, Alexander G, Huang-Doran I, Griffin J, Ahrlund-Richter L, Skepper J, Semple R, Weber A, Lomas DA, Vallier L. Rashid ST, et al. J Clin Invest. 2010 Sep;120(9):3127-36. doi: 10.1172/JCI43122. Epub 2010 Aug 25. J Clin Invest. 2010. PMID: 20739751 Free PMC article.

4

Lipodystrophy: metabolic insights from a rare disorder.

Huang-Doran I, Sleigh A, Rochford JJ, O'Rahilly S, Savage DB. Huang-Doran I, et al. J Endocrinol. 2010 Dec;207(3):245-55. doi: 10.1677/JOE-10-0272. Epub 2010 Sep 24. J Endocrinol. 2010. PMID: 20870709 Review.

5

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Huang-Doran I, et al. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 Free PMC article.

6

Congenital syndromes of severe insulin resistance.

Huang-Doran I, Savage DB. Huang-Doran I, et al. Pediatr Endocrinol Rev. 2011 Mar;8(3):190-9. Pediatr Endocrinol Rev. 2011. PMID: 21525795 Review.

7

Adiponectin and leptin in human severe insulin resistance - diagnostic utility and biological insights.

Groeneveld MP, Huang-Doran I, Semple RK. Groeneveld MP, et al. Biochimie. 2012 Oct;94(10):2172-9. doi: 10.1016/j.biochi.2012.01.021. Epub 2012 Feb 4. Biochimie. 2012. PMID: 22342226 Review.

8

Truncation of POC1A associated with short stature and extreme insulin resistance.

Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium; Savage DB, O'Rahilly S, Semple RK, Barroso I. Chen JH, et al. J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090. J Mol Endocrinol. 2015. PMID: 26336158 Free PMC article.

9

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK. Huang-Doran I, et al. JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766. JCI Insight. 2016. PMID: 27766312 Free PMC article.

10

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K, Adams C, Stears A, Saudek V, O'Rahilly S, Barroso I, Semple RK. Rocha N, et al. Sci Rep. 2017 Dec 14;7(1):17593. doi: 10.1038/s41598-017-17746-8. Sci Rep. 2017. PMID: 29242557 Free PMC article.

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